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Menkes Syndrome

What is Menkes Syndrome?

Menkes syndrome is an inborn error of metabolism in which cells in the body cannot absorb enough copper.

 

Menkes syndrome is an inborn error of metabolism in which cells in the body cannot absorb enough copper.
Acknowledgement of Menkes Syndrome has not been added yet.
0.4http://emedicine.medscape.com/article/946985-overview
Synonyms for Menkes Syndrome has not been added yet.
Menkes Disease is a rare, fatal genetic disease of copper metabolism, affecting the ATP7A gene. Menkes kinky hair disease affects males nearly exclusively because it is an X-linked recessive trait. Female carriers generally do not manifest symptoms unless unusual genetic circumstances are present.
Pregnancy is usually healthy, followed by a normal delivery. Birth is sometimes a few weeks early, however. Babies born with Menkes Disease usually do not show outward symptoms that would alarm parents or doctors. Hair may have an unusual appearance and coarse texture. Often there is hypothermia present, and frequently some jaundice, but these can be present in healthy babies as well. Babies generally go home with their parenets not suspecting anything. When the infant is aged approximately 2-2.5 months, the parents usually first suspect that something is wrong. Loss os skills and muscle tone, seizures, feeding difficuties are often the first signs of a problem. A steady downward spiral continues clinically, with development of progressive hypotonia, seizures, failure to thrive, and appearance of the characteristic coarse wiry hair by 4-5 months. Usual symptoms include: loss of early developmental milestones seizures poor weight gain abnormal hair loose skin pectus excavatum profound hypotonia and motor impairment bladder diverticula
Name Description
Seizures Seizures
Laboratory findings in Menkes kinky hair disease include low copper and ceruloplasmin, although values for these are also low in healthy infants during the first 6 weeks of life and thus are not diagnostic for Menkes kinky hair disease during this time frame. Placental copper levels are reliable for diagnosis during the prenatal period, but of course this is not done unless Menkes is anticipated. Early diagnosis is important for more predictable early therapy. Copper egress in cultured fibroblasts is a time-honored method for diagnosis of Menkes kinky hair disease. Considered a definitive diagnostic test, it requires propagation of cells obtained from a skin biopsy for at least several weeks before the assay can be performed.
Diagnostic tests of Menkes Syndrome has not been added yet
Copper replacement therapy is ultimately the only way to prevent neurological impairment, but this has met with a variety of successes, depending on the severity of the mutation. Research continues regarding the best method of delivery of copper therapy. Although copper replacement does not provide substantive neurologic improvement in all patients with Menkes kinky hair disease who are treated very early or in older individuals with Menkes kinky hair disease, its use has been associated with modest clinical benefit, including decreased seizure frequency and reduced irritability. No evidence suggests that copper treatment influences life span in patients with Menkes kinky hair disease in a consistent fashion. In light of the possibility of small clinical benefits or improved patient comfort in a hopeless disease, decisions concerning copper replacement treatment in symptomatic patients perhaps best are made by the parents, following frank discussion of the very limited benefits that can be expected. In instances where the diagnosis is made prior to the onset of neurologic damage, copper replacement is clearly indicated because the prevention of the neurodegenerative features is possible, at least for some such individuals. Whatever mode of treatment for Menkes kinky hair disease is used, intervention at the earliest possible moment is of paramount importance because the window of opportunity before neurologic injury is no longer than several months, and usually even within the first days of birth at least. Other treatment is symptomatic. Frequent respiratory, feeding, neurologic, and orthopedic issues will arise, so attention to these issues is very important. * Neurologist (for seizure management, developmental assessment) * Gastroenterologist and nutritionist (for feeding issues) * Urologist (for management of urinary tract issues, including obstruction related to bladder diverticula) * Otolaryngologist (if chronic ear infections develop) * Psychologist/social worker (if needed, to help parents and family members with emotional and practical economic concerns related to the care of an infant or child with Menkes kinky hair disease) * Physical and occupational therapist (to maximize neurodevelopmental outcome)
Most doctors predict early death, usually before age 3. Some children survive quite a bit longer. Severity of mutation often affects the length of survival, but not always. Very early treatment with copper can have a good effect when the mutation is not on the severe end of the spectrum. Death is usually due to respiratory failure, although sudden death happens in the absence of any apparent acute situation.
Tips or Suggestions of Menkes Syndrome has not been added yet.
References of Menkes Syndrome has not been added yet.
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